A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1006179

Internal ID

19095397

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:87146758..87661069	hg38	UCSC Ensembl
Inner	chr2:87373881..87960588	hg19	UCSC Ensembl
Inner	chr2:87227392..87741703	hg18	UCSC Ensembl

Cytoband

2p11.2

Allele length

Assembly	Allele length
hg38	514312
hg19	586708
hg18	514312

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3582291, nssv3728743, nssv3728748, nssv3582287, nssv3728763, nssv3728755, nssv3582307, nssv3582300, nssv3582280, nssv3582293, nssv3582312, nssv3582282, nssv3582290, nssv3728751, nssv3582289, nssv3582311, nssv3582268, nssv3582266, nssv3728745, nssv3728750, nssv3582295, nssv3582269, nssv3582285, nssv3728757, nssv3728762, nssv3582279, nssv3582313, nssv3582284, nssv3582305, nssv3728741, nssv3582304, nssv3582288, nssv3582309, nssv3582317, nssv3728760, nssv3582283, nssv3582278, nssv3582274, nssv3582273, nssv3728740, nssv3582296, nssv3582320, nssv3728752, nssv3582301, nssv3582292, nssv3582318, nssv3728749, nssv3582270, nssv3582303, nssv3728761, nssv3582316, nssv3582310, nssv3582294, nssv3582314, nssv3582281, nssv3582272, nssv3582267, nssv3728759, nssv3582299, nssv3582265, nssv3728758, nssv3582297, nssv3582286, nssv3582271, nssv3582306, nssv3582319, nssv3582264, nssv3728747, nssv3582275, nssv3582308, nssv3728746, nssv3728744, nssv3728756, nssv3728754, nssv3582315, nssv3582277, nssv3582276, nssv3582298, nssv3582302, nssv3728739, nssv3728742, nssv3728753

Samples

Known Genes

LINC00152, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2

Method

SNP array

Analysis

Affymetrix SNP array copy number analysis

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Coe_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	11257
Observed Gain	58
Observed Loss	24
Observed Complex	0
Frequency	n/a