A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv550782

Internal ID

15991505

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:46224041..46332377	hg38	UCSC Ensembl
Inner	chr10:47595277..47703613	hg19	UCSC Ensembl
Inner	chr10:47065283..47173619	hg18	UCSC Ensembl

Cytoband

10q11.22

Allele length

Assembly	Allele length
hg38	108337
hg19	108337
hg18	108337

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv747591, nssv747597, nssv1174525, nssv1174524, nssv1174519, nssv747580, nssv1174516, nssv747576, nssv747605, nssv747622, nssv1174518, nssv747568, nssv747579, nssv747584, nssv747583, nssv747603, nssv747578, nssv747625, nssv747620, nssv747589, nssv747609, nssv747598, nssv747613, nssv747588, nssv1174522, nssv1174520, nssv747585, nssv747619, nssv747612, nssv747606, nssv747582, nssv747599, nssv747577, nssv747590, nssv747565, nssv747563, nssv747624, nssv747566, nssv747608, nssv747607, nssv747571, nssv747596, nssv747567, nssv747572, nssv747617, nssv747610, nssv747581, nssv747594, nssv747601, nssv747569, nssv747602, nssv747614, nssv747615, nssv747575, nssv1174529, nssv747586, nssv1174523, nssv1174521, nssv1174528, nssv747587, nssv747626, nssv747618, nssv747564, nssv747595, nssv747562, nssv1174526, nssv1174517, nssv1174527, nssv747621, nssv747593, nssv747623, nssv747592, nssv747616, nssv747570, nssv747604, nssv747600, nssv747573, nssv747574, nssv747611, nssv747627

Samples

NINDS_272, NINDS_38, NINDS_55, NINDS_94, NINDS_21, NINDS_124, NINDS_152, NINDS_83, NINDS_230, NINDS_99, NINDS_62, NINDS_73, NINDS_120, NINDS_231

Known Genes

ANTXRL, ANTXRLP1

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	80
Observed Loss	0
Observed Complex	0
Frequency	n/a