A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv560469

Internal ID

16001192

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:121747352..121748165	hg38	UCSC Ensembl
Inner	chr12:122185258..122186071	hg19	UCSC Ensembl
Inner	chr12:120669641..120670454	hg18	UCSC Ensembl

Cytoband

12q24.31

Allele length

Assembly	Allele length
hg38	814
hg19	814
hg18	814

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv803506, nssv803565, nssv803551, nssv803552, nssv803537, nssv803502, nssv803498, nssv803514, nssv803505, nssv803545, nssv803586, nssv803559, nssv803535, nssv803573, nssv803508, nssv803501, nssv803542, nssv803585, nssv803567, nssv803515, nssv803562, nssv803546, nssv803561, nssv803571, nssv803533, nssv803511, nssv803548, nssv803526, nssv803582, nssv803568, nssv803558, nssv803579, nssv803524, nssv803519, nssv803528, nssv803557, nssv803507, nssv803504, nssv803539, nssv803569, nssv803520, nssv803556, nssv803512, nssv803510, nssv803530, nssv803516, nssv803549, nssv803566, nssv803503, nssv803563, nssv803580, nssv803575, nssv803564, nssv803540, nssv803576, nssv803574, nssv803583, nssv803560, nssv803499, nssv803496, nssv803531, nssv803538, nssv803547, nssv803517, nssv803513, nssv803544, nssv803523, nssv803522, nssv803555, nssv803518, nssv803536, nssv803543, nssv803529, nssv803532, nssv803500, nssv803554, nssv803541, nssv803572, nssv803497, nssv803584, nssv803578, nssv803525, nssv803570, nssv803534, nssv803577, nssv803509, nssv803553, nssv803527, nssv803581, nssv803550, nssv803521, nssv803495

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	39
Observed Loss	53
Observed Complex	0
Frequency	n/a