A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv548336

Internal ID

15989059

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:179638247..179638801	hg38	UCSC Ensembl
Inner	chr1:179607382..179607936	hg19	UCSC Ensembl
Inner	chr1:177874005..177874559	hg18	UCSC Ensembl

Cytoband

1q25.2

Allele length

Assembly	Allele length
hg38	555
hg19	555
hg18	555

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv729429, nssv729597, nssv729523, nssv729476, nssv729401, nssv729668, nssv729388, nssv729622, nssv729612, nssv729588, nssv729674, nssv729613, nssv729630, nssv729514, nssv729663, nssv729467, nssv729605, nssv729487, nssv729640, nssv729535, nssv729512, nssv729599, nssv729413, nssv729582, nssv729428, nssv729415, nssv729614, nssv729518, nssv729426, nssv729592, nssv729587, nssv729532, nssv729573, nssv729511, nssv729472, nssv729526, nssv729598, nssv729575, nssv729647, nssv729658, nssv729567, nssv729403, nssv729461, nssv729460, nssv729419, nssv729434, nssv729638, nssv729522, nssv729620, nssv729455, nssv729546, nssv729656, nssv729392, nssv729539, nssv729607, nssv729427, nssv729562, nssv729552, nssv729490, nssv729657, nssv729536, nssv729449, nssv729679, nssv729471, nssv729667, nssv729659, nssv729409, nssv729563, nssv729443, nssv729393, nssv729666, nssv729521, nssv729497, nssv729524, nssv729404, nssv729642, nssv729448, nssv729387, nssv729623, nssv729453, nssv729394, nssv729574, nssv729530, nssv729661, nssv729603, nssv729591, nssv729454, nssv729437, nssv729554, nssv729545, nssv729517, nssv729389, nssv729438, nssv729510, nssv729585, nssv729544, nssv729673, nssv729442, nssv729617, nssv729649, nssv729537, nssv729581, nssv729604, nssv729553, nssv729651, nssv729513, nssv729680, nssv729425, nssv729482, nssv729590, nssv729411, nssv729525, nssv729494, nssv729391, nssv729484, nssv729417, nssv729561, nssv729520, nssv729551, nssv729602, nssv729631, nssv729594, nssv729643, nssv729564, nssv729418, nssv729408, nssv729565, nssv729534, nssv729665, nssv729586, nssv729423, nssv729652, nssv729637, nssv729636, nssv729609, nssv729621, nssv729465, nssv729646, nssv729618, nssv729550, nssv729671, nssv729677, nssv729639, nssv729629, nssv729619, nssv729496, nssv729445, nssv729501, nssv729541, nssv729495, nssv729450, nssv729397, nssv729625, nssv729431, nssv729593, nssv729559, nssv729473, nssv729584, nssv729540, nssv729416, nssv729493, nssv729548, nssv729580, nssv729662, nssv729626, nssv729399, nssv729474, nssv729589, nssv729414, nssv729396, nssv729560, nssv729519, nssv729634, nssv729568, nssv729470, nssv729570, nssv729486, nssv729485, nssv729578, nssv729653, nssv729478, nssv729506, nssv729576, nssv729528, nssv729624, nssv729601, nssv729660, nssv729446, nssv729503, nssv729463, nssv729420, nssv729557, nssv729555, nssv729458, nssv729531, nssv729410, nssv729669, nssv729412, nssv729538, nssv729515, nssv729549, nssv729508, nssv729456, nssv729405, nssv729616, nssv729480, nssv729435, nssv729421, nssv729489, nssv729491, nssv729600, nssv729672, nssv729569, nssv729610, nssv729475, nssv729402, nssv729579, nssv729566, nssv729390, nssv729406, nssv729433, nssv729527, nssv729479, nssv729481, nssv729595, nssv729432, nssv729633, nssv729483, nssv729628, nssv729645, nssv729533, nssv729608, nssv729462, nssv729556, nssv729543, nssv729644, nssv729583, nssv729502, nssv729499, nssv729464, nssv729452, nssv729678, nssv729466, nssv729558, nssv729676, nssv729395, nssv729509, nssv729650, nssv729675, nssv729492, nssv729505, nssv729529, nssv729632, nssv729542, nssv729498, nssv729407, nssv729398, nssv729681, nssv729440, nssv729606, nssv729516, nssv729459, nssv729488, nssv729664, nssv729469, nssv729547, nssv729572, nssv729627, nssv729441, nssv729444, nssv729439, nssv729655, nssv729596, nssv729670, nssv729577, nssv729430, nssv729641, nssv729611, nssv729468, nssv729500, nssv729457, nssv729571, nssv729507, nssv729504, nssv729436, nssv729477, nssv729654, nssv729451, nssv729648, nssv729400, nssv729635, nssv729615, nssv729447, nssv729422, nssv729424

Samples

Known Genes

Method

SNP array

Analysis

Illumina SNP array copy number analysis

Platform

Not reported

Comments

Reference

Cooper_et_al_2011

Pubmed ID

Accession Number(s)

Frequency

Sample Size	17421
Observed Gain	0
Observed Loss	295
Observed Complex	0
Frequency	n/a